- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Early onset of severe psychomotor delay, progressive visual impairment from corneal clouding and retinal degeneration. 15 percent of affected will have progressive neurological degeneration. Affected persons may learn to say a few words or walk independently.
Incidence: 1 in 63,000 Ashkenazi Jewish individuals; unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: PathogenicMCOLN1 gene mutations.
Mutations Tested: g.511_6493del and c.406-2A>G.
Clinical Sensitivity: 95 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
See Compliance Statement C: www.aruplab.com/CS
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051450||Mucolipidosis IV (MCOLN1) 2 Mut, Allele1||34658-5|
|0051451||Mucolipidosis IV (MCOLN1) 2 Mut, Allele2||34658-5|
|0051452||Mucolipidosis IV (MCOLN1) 2 Mut, InterpM||46965-0|
|2001329||Mucolipidosis IV (MCOLN1 2 Mut, Spec||31208-2|